Canonical Allele Identifier: CA10391412

Linked Data

dbSNP Id: rs776631081
gnomAD v2: X-43809194-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949948G>T , CM000685.2:g.43949948G>T GRCh38
NC_000023.10:g.43809194G>T , CM000685.1:g.43809194G>T GRCh37
NC_000023.9:g.43694138G>T NCBI36
NG_009832.1:g.28728C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.253C>A (NDP) MANE Select ENSP00000495972.1:p.Leu85Ile
ENST00000647044.1:c.253C>A (NDP) ENSP00000495811.1:p.Leu85Ile
ENST00000378062.5:c.253C>A (NDP) ENSP00000367301.5:p.Leu85Ile
ENST00000470584.1:n.297C>A (NDP)
NM_000266.3:c.253C>A (NDP) NP_000257.1:p.Leu85Ile
NR_046631.1:n.217G>T (NDP-AS1)
NM_000266.4:c.253C>A (NDP) MANE Select NP_000257.1:p.Leu85Ile